Prenatal ultrasound markers called soft markers may have a future impact on neurodevelopmental disorders. CNV alterations are frequently found in these prenatally detected soft markers?
luis alberto mendez-rosado The soft markers give clues to underlying diagnosis which may be a chromosomal disorder. Common markers for Down syndrome include increased nuchal translucency (NT), short femurs and echogenic focus in heart. However, isolated soft markers have no diagnostic value. Multiple soft markers can be indication for further testing. Nowadays, low resolution microarray has facilitated diagnosis of chromosomal deletion and duplication syndromes as CNVs can be easily identified on this testing. Many times review antenatal ultrasonography after 4-6 weeks may be beneficial.
Yes, Inusha, i agree with You. But do You know some relation between soft markers in Prenatal US and structural aberrations of chromosomes, I mean structural aberrations You could see under microscopic analysis?
luis alberto mendez-rosado The presence of multiple fetal markers, poly-hydramnios and intrauterine growth restriction are clues to underlying chromosomal disorder in fetus. Some fetuses with chromosome 22q11.2 micro-deletion also ca present with cardiac defect and clefting on antenatal sonography whereas those with micro-duplications in the region do not usually show abnormalities so frequently. This micro-deletion or DiGeorge syndrome can be confirmed also by MLPA testing apart from CMA. Increased nuchal translucency, intrauterine growth restriction and microcephaly are general markers for any major structural chromosomal aberration; but may not be always detected antenatally.
Yes, good answer. But in the case of balanced rearrangement, like reciprocal translocations...could be present some soft marker detected in the Prenatal Ultra sound?